GEN-FPF: Genetic Exploration of Familial Pulmonary Fibrosis
ConditionFamilial Pulmonary Fibrosis
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorFondazione IRCCS Policlinico San Matteo di Pavia
About this trial
Pulmonary fibrosis (PF) is a progressive lung disease marked by tissue scarring and impaired breathing. Familial pulmonary fibrosis (FPF) makes up 10-20% of PF cases and shares features with idiopathic PF (IPF), but the genetic causes of FPF are not fully understood.
This study focuses on uncovering the genetic basis of FPF by analyzing families with multiple affected members. It targets genes involved in fibrogenesis and surfactant disorders, as familial cases often appear earlier and progress more rapidly than sporadic ones.
Understanding FPF genetics could:
1. Identify new genetic markers for early diagnosis and prognosis. 2. Improve genetic counseling and preventive strategies for affected families. 3. Reveal therapeutic targets for personalized treatments. 4. Highlight shared molecular pathways between familial and idiopathic PF, potentially benefiting a broader patient group.
In summary, the study aims to deepen our understanding of FPF genetics to improve diagnosis, counseling, and treatment for both familial and idiopathic forms of pulmonary fibrosis.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
None
Disqualifiers
None
Trial population
The study population includes individuals diagnosed with familial pulmonary fibrosis (FPF) and their first-degree relatives (affected and unaffected), as well as a comparison cohort of idiopathic pulmonary fibrosis (IPF) patients. Participants will be recruited from two Italian centers: SC Pneumologia, Fondazione IRCCS Policlinico San Matteo (Pavia) Azienda Ospedaliero Universitaria Careggi (Florence)
Trial design
Design model
Other
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
126 Participants
are grouped into 2 trial groupsGroup A: FPF
Group B: IPF
Trial outcomes
Primary outcomes
1
Number and Type of Pathogenic or Likely Pathogenic Variants Identified by Next-Generation Sequencing (NGS)
dentification and classification of genetic variants detected in genes associated with familial pulmonary fibrosis (FPF) and surfactant metabolism (e.g., SFTPC, SFTPA2, ABCA3, MUC5B). Variants will be classified according to ACMG guidelines and reported as counts and frequencies in the study population.
Time frame
within 24 months of participant enrollmentSponsors and contacts
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Source ClinicalTrials.gov